Variant report

Variant	rs16999265
Chromosome Location	chr20:52874444-52874445
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10485794	0.81[AFR][1000 genomes]
rs16999283	1.00[EUR][1000 genomes]
rs16999288	1.00[EUR][1000 genomes]
rs16999291	1.00[EUR][1000 genomes]
rs57095301	1.00[EUR][1000 genomes]
rs58027221	1.00[EUR][1000 genomes]
rs58144675	1.00[EUR][1000 genomes]
rs59946156	1.00[EUR][1000 genomes]
rs7263226	1.00[EUR][1000 genomes]
rs7264698	1.00[EUR][1000 genomes]
rs7270801	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73914338	1.00[EUR][1000 genomes]
rs73914339	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv586224	chr20:52474850-53279490	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	338 gene(s)	inside rSNPs	diseases
2	nsv834010	chr20:52759824-52932939	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
3	nsv834011	chr20:52858341-53086042	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52871000-52875000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr20:52871000-52875000	Enhancers	HMEC	breast
3	chr20:52871000-52875400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr20:52871200-52875000	Enhancers	NHEK	skin
5	chr20:52871400-52875000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr20:52872400-52875000	Enhancers	Placenta Amnion	Placenta Amnion
7	chr20:52872800-52883800	Weak transcription	Pancreas	Pancrea
8	chr20:52874000-52879200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr20:52874200-52879400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr20:52874200-52883600	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr20:52874200-52884000	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr20:52874400-52875200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr20:52874400-52879400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr20:52874400-52879600	Weak transcription	Osteobl	bone

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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